[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings]

Arch Argent Pediatr. 2012 Aug;110(4):e63-6. doi: 10.5546/aap.2012.e63.
[Article in Spanish]

Abstract

LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • 3-Hydroxyacyl CoA Dehydrogenases / genetics
  • 3-Hydroxyacyl CoA Dehydrogenases / metabolism
  • Female
  • HELLP Syndrome*
  • Humans
  • Infant
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
  • Magnetic Resonance Spectroscopy
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism
  • Pregnancy

Substances

  • 3-Hydroxyacyl CoA Dehydrogenases
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase

Supplementary concepts

  • 3-Hydroxyacyl-CoA Dehydrogenase Deficiency